RAG2
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Deletion Genomic: g.4806delG
CDS: c.712delG
AnimoAcid: p.Val238fs		 Deletion Fluorescent sequencing Noordzij JG et al., 2002
2 Substitutions Genomic: g.5536A>C
CDS: c.1442A>C
AnimoAcid: p.His481Pro		 Substitutions Fluorescent sequencing Noordzij JG et al., 2002
3 Substitutions Genomic: g.5451T>A
CDS: c.1357T>A
AnimoAcid: p.Trp453Arg		 Substitutions Fluorescent sequencing Noordzij JG et al., 2002
4 Substitutions Genomic: g.4140C>T
CDS: c.46C>T
AnimoAcid: p.Gln16X		 Substitutions Fluorescent sequencing Noordzij JG et al., 2002
5 Substitutions Genomic: g.4209A>G
CDS: c.115A>G
AnimoAcid: p.Arg39Gly		 Substitutions Direct sequencing Corneo B et al., 2000
6 Substitutions Genomic: g.4780G>A
CDS: c.686G>A
AnimoAcid: p.Arg229Gln		 Substitutions Direct sequencing Corneo B et al., 2000
7 Substitutions Genomic: g.4198G>T
CDS: c.104G>T
AnimoAcid: p.Gly35Val		 Substitutions Direct sequencing Corneo B et al., 2000
8 Substitutions Genomic: g.5527G>A
CDS: c.1433G>A
AnimoAcid: p.Cys478Tyr		 Substitutions Direct sequencing, SSCP Schwarz K et al., 1996
9 Substitutions Genomic: g.4780G>A
CDS: c.686G>A
AnimoAcid: p.Arg229Gln		 Substitutions Dideoxy fingerprinting Signorini S et al., 1999
10 Substitutions Genomic: g.4780G>A
CDS: c.686G>A
AnimoAcid: p.Arg229Gln		 Substitutions Direct sequencing, SSCP Schwarz K et al., 1996
11 Substitutions Genomic: g.4779C>T
CDS: c.685C>T
AnimoAcid: p.Arg229Trp		 Substitutions Restriction enzyme analysis Tabori U et al., 2004
12 Substitutions Genomic: g.4377G>A
CDS: c.283G>A
AnimoAcid: p.Gly95Arg		 Substitutions Direct sequencing Tabori U et al., 2004
13 Substitutions Genomic: g.4198G>T
CDS: c.104G>T
AnimoAcid: p.Gly35Val		 Substitutions Direct sequencing Tabori U et al., 2004
14 Substitutions Genomic: g.4738C>T
CDS: c.644C>T
AnimoAcid: p.Thr215Ile		 Substitutions Direct sequencing Tabori U et al., 2004
15 Substitutions Genomic: g.4377G>A
CDS: c.283G>A
AnimoAcid: p.Gly95Arg		 Substitutions Direct sequencing Gomez CA et al., 2000
16 Substitutions Genomic: g.5451T>A
CDS: c.1357T>A
AnimoAcid: p.Trp453Arg		 Substitutions Direct sequencing Gomez CA et al., 2000
17 Deletion Genomic: g.4911_4913delATT
CDS: c.817_819delATT
AnimoAcid: p.Ile273del		 Deletion Direct sequencing Gomez CA et al., 2000
18 Substitutions Genomic: g.4573C>T
CDS: c.479C>T
AnimoAcid: p.Ser160Leu		 Substitutions Direct sequencing Sobacchi C et al., 2006
19 Substitutions Genomic: g.5598A>G
CDS: c.1504A>G
AnimoAcid: p.Met502Val		 Substitutions Direct sequencing Sobacchi C et al., 2006
20 Substitutions Genomic: g.5341G>T
CDS: c.1247G>T
AnimoAcid: p.Trp416Leu		 Substitutions Direct sequencing Sobacchi C et al., 2006
21 Deletion Genomic: g.4452delG
CDS: c.358delG
AnimoAcid: p.Val120LeufsX11		 Deletion Direct sequencing Sobacchi C et al., 2006
22 Substitutions Genomic: g.4779C>T
CDS: c.685C>T
AnimoAcid: p.Arg229Trp		 Substitutions Direct sequencing Sobacchi C et al., 2006
23 Substitutions Genomic: g.4198G>T
CDS: c.104G>T
AnimoAcid: p.Gly35Val		 Substitutions Direct sequencing Sobacchi C et al., 2006
24 Substitutions Genomic: g.5414A>C
CDS: c.1320A>C
AnimoAcid: p.Lys440Asn		 Substitutions Direct sequencing Sobacchi C et al., 2006
25 Substitutions Genomic: g.4852C>G
CDS: c.758C>G
AnimoAcid: p.Pro253Arg		 Substitutions Direct sequencing Sobacchi C et al., 2006
26 Substitutions Genomic: g.5426C>G
CDS: c.1332C>G
AnimoAcid: p.Ile444Met		 Substitutions Direct sequencing Alsmadi O et al., 2009
27 Substitutions Genomic: g.4473A>T
CDS: c.379A>T
AnimoAcid: p.Lys127X		 Substitutions Direct sequencing Alsmadi O et al., 2009
28 Substitutions Genomic: g.4104C>T
CDS: c.10C>T
AnimoAcid: p.Gln4X		 Substitutions Direct sequencing Alsmadi O et al., 2009
29 Substitutions Genomic: g.4675C>A
CDS: c.581C>A
AnimoAcid: p.Ser194X		 Substitutions Direct sequencing Sadeghi-Shabestari M et al., 2009
30 Substitutions Genomic: g.4677T>G
CDS: c.583T>G
AnimoAcid: p.Tyr195Asp		 Substitutions Direct sequencing Sadeghi-Shabestari M et al., 2009
31 Substitutions Genomic: g.5460G>A
CDS: c.1366G>A
AnimoAcid: p.Ala456Thr		 Substitutions Direct sequencing Ktiouet S et al., 2009
32 Substitutions Genomic: g.5432C>G
CDS: c.1338C>G
AnimoAcid: p.Cys446Trp		 Substitutions Southern blotting Couedel C et al., 2010
33 Substitutions Genomic: g.5341G>T
CDS: c.1247G>T
AnimoAcid: p.Trp416Leu		 Substitutions Southern blotting Couedel C et al., 2010
34 Substitutions Genomic: g.5451T>C
CDS: c.1357T>C
AnimoAcid: p.Trp453Arg		 Substitutions Southern blotting Couedel C et al., 2010
35 Substitutions Genomic: g.5527G>A
CDS: c.1433G>A
AnimoAcid: p.Cys478Tyr		 Substitutions Southern blotting Couedel C et al., 2010
36 Substitutions Genomic: g.5536A>C
CDS: c.1442A>C
AnimoAcid: p.His481Pro		 Substitutions Southern blotting Couedel C et al., 2010
37 Substitutions Genomic: g.4312G>A
CDS: c.218G>A
AnimoAcid: p.Arg73His		 Substitutions Direct sequencing Asai E et al., 2010
38 Substitutions Genomic: g.4926C>T
CDS: c.832C>T
AnimoAcid: p.Gln278X		 Substitutions Direct sequencing Asai E et al., 2010
39 Substitutions Genomic: g.5423G>T
CDS: c.1329G>T
AnimoAcid: p.Met443Ile		 Substitutions Direct sequencing Asai E et al., 2010
40 Substitutions Genomic: g.4226A>G
CDS: c.115A>G
AnimoAcid: p.Arg39Gly		 Substitutions Direct sequencing Corneo B et al., 2001
41 Substitutions Genomic: g.4797G>A
CDS: c.686G>A
AnimoAcid: p.Arg229Gln		 Substitutions Direct sequencing Corneo B et al., 2001